IFT81 intraflagellar transport 81
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 54 |
| Likely pathogenic | 0 | 24 |
| Benign | 0 | 52 |
| Likely benign | 0 | 288 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 416 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
58 |
 |
762 |
 |
4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | CDV-1 |
| SYNONYM | CDV-1R |
| SYNONYM | CDV1 |
| SYNONYM | CDV1R |
| SYNONYM | DV1 |
| SYNONYM | SRTD19 |
| MIM | 605489 OMIM |
| HGNC | HGNC:14313 HGNC |
| Ensembl | ENSG00000122970 Ensembl |
| AllianceGenome | HGNC:14313 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000242591.10 | hg38 | chr12 | 110,124,357 | 110,218,793 | 94,437 |
| ENST00000361948.8 | hg38 | chr12 | 110,124,335 | 110,169,182 | 44,848 |
| ENST00000552912.5 | hg38 | chr12 | 110,124,335 | 110,218,775 | 94,441 |
| ENST00000361948.8 | hg19 | chr12 | 110,562,140 | 110,606,987 | 44,848 |
| ENST00000552912.5 | hg19 | chr12 | 110,562,140 | 110,656,580 | 94,441 |
| ENST00000242591.10 | hg19 | chr12 | 110,562,162 | 110,656,598 | 94,437 |
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